Wang Fei,Yu Ling.Analysis of endocrine evaluation and surgical value of congenital micropenis[J].Journal of Clinical Pediatric Surgery,2019,18(10):849-853.[doi:10.3969/j.issn.1671-6353.2019.10.010]
先天性小阴茎内分泌评估和手术治疗价值的研究
- Title:
- Analysis of endocrine evaluation and surgical value of congenital micropenis
- Keywords:
- Micropenis; Endocrine; Penile Correction; Treatment Outcome
- 分类号:
- R726.9;R697+.1;R58
- 摘要:
- 目的 了解先天性小阴茎的病因，进行内分泌评估，探讨外科手术治疗的价值。方法 收集14例先天性小阴茎患儿，对其进行核型分析及内分泌激素评估，选择性检测5α-还原酶基因（SRD5A2）、雄激素受体基因（AR）、类固醇生成因子1（SF1）基因突变，14例患儿中11例行阴茎矫治术治疗。结果 14例患儿中2例为染色体异常，1例为SRD5A2突变，1例为SF1基因突变；所有病例GnRH激发试验正常提示垂体功能正常，HCG激发试验提示2例睾丸功能低下。11例行阴茎矫治术的患儿，手术前阴茎长度（1.80±0.60）cm，手术后为（1.94±0.66）cm，差异有统计学意义（t=4.4，P<0.01）；术后1年阴茎长度（1.81±0.64）cm，与术前比较差异无统计学意义（t=1.00，P=0.34）。而手术前阴茎头大小（0.45±0.12）cm3，手术后为（0.62±0.16）cm3，差异有统计学意义（t=6.19，P=0.03）；术后1年阴茎头大小（0.61±0.11）cm3，与术前比较差异有统计学意义（t=8.25，P=0.01）。结论 内分泌评估对明确先天性小阴茎病因尤为重要，术后阴茎头暴露后，患儿能站立排尿。但阴茎矫治术远期治疗效果仍需要进一步随访观察。
- Abstract:
- Objective To elucidate the etiology of congenital micropenis in children,evaluate endocrine functions and explore the value of surgical treatments.Methods A total of 14 children with micropenis were recruited for karyotypic analysis and endocrine hormonal assessment.The gene mutations of 5α-reductase gene (SRD5A2),androgen receptor gene (AR) and steroid producing factor 1 (SF1) were detected selectively.Eleven of them underwent penile correction.Results Among them,chromosomal mutation was SRD5A2 (n=1) and SF1 (n=1).All provocation tests of gonadotropin-releasing hormone (GnRH) were normal,suggesting normal pituitary function.And provocation test of human chorionic gonadotropin (HCG) indicated testicular dysfunction (n=2).Among 11 cases of penile correction,the preoperative and postoperative penile lengths were (1.80±0.60) and (1.94±0.66) cm respectively and the difference was statistically significant (t=4.4,P<0.01); penile length was (1.81±0.64) cm at 1 year post-operation.As compared with pre-operation,the difference was not statistically significant (t=1,P=0.34).And the preoperative and postoperative glan sizes were (0.45±0.12) and (0.62±0.16) cm3 respectively and the difference was statistically significant (t=6.19,P=0.03); The postoperative glan size at 1 year post-operation was (0.61±0.11) cm3.As compared with pre-operation,the difference was statistically significant (t=8.25,P=0.01).Conclusion Endocrine assessment plays an important role in understanding the pathogenesis of micropenis and penile correction is necessary for normal penile development.And the long-term outcomes of penile correction for pediatric micropenis require further follow-ups.
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备注/Memo
收稿日期:2018-10-08。
基金项目:上海市科学技术委员会医学引导计划（编号：15411966900）；上海市卫生健康委员会重要薄弱学科建设项目（编号：2016ZB0102）
通讯作者:余玲,Email:adele yuling@163.com